Gnao1^em1Rneu

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Species

Mus musculus

Symbol

Gnao1^em1Rneu

Category

allele

Allele of gene

Gnao1

Transgenic Constructs

None

Synonyms

• Gnao1^G203R

Description

CRISPR/Cas9 technology generated a GGG to CGC change in exon 6 resulting in a glycine to arginine gain of function mutation at amino acid 203. Subsequent analysis revealed that an unexpected mutation occurred that changes two bases 13 and 14 bp upstream of the designed G203R mutation. This converts the AGG at the splice acceptor site on exon 6 to an AAA that does not splice correctly. RT-PCR analysis and sequencing showed that there was virtually no correctly spliced mutant Gnao1 RNA that contained the G203R mutant allele.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations